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Last year when I read Kim Brown’s blog on her experience on the Hill for Rare Disease Week 2016, I told my husband, Trevis, that I wanted to go to Washington DC in 2017 and be an advocate for our precious son, Thomas, who left this earth to become an angel in October of 2015. After seeing all of the emails from Dean and Teryn Suhr of MLD Foundation and after visiting in person with them and Christine Hoffman when they all made a trip to Minneapolis, I applied for a stipend through EveryLife Foundation and soon I found myself booking flights for DC. I convinced my husband Trevis to come as well and the next thing we knew we were on our way to DC not really knowing what kind of experience that we would have.

We arrived into DC in the afternoon of Monday, February 27 and met up with Dean and Teryn Suhr and Eric and Christine Hoffman, fellow MLD parents, for the viewing of Rare Disease Documentary Screening ofUp For Air at the United States Naval Heritage Center. The movie was very nicely put together regarding an individual who was living with Cystic Fibrosis, and his journey through the disease. After a late dinner and lots of travel, we were ready for bed as we knew we had another busy tomorrow learning about all of the policies that we were advocating for in our meetings on the Hill on Wednesday.

Tuesday morning we went to the day-long RDLA Legislative Conference, hoping they would teach us what to say to our Congress men and women on Wednesday. When we got there we were inundated with a lot of information about current policies affecting the rare disease community. Specifically they talked about what needed to be included in the Affordable Care Act Replacement Plan to not harm rare disease patients going forward, the Rare Disease Congressional Caucus and its importance, rationale for increased funding related to the National Institute of Health (NIH) and Federal Drug Administration (FDA), and the support of the OPEN ACT. By the end of the day we felt prepared for our meetings with our Congress men and women on Wednesday. In the afternoon we were able to go to a breakout session where they taught us how to tell our story which included our plug for why we needed their support within 90 seconds. We also got to meet other constituents from the State of Minnesota as we would spend most of the day with them on Wednesday telling our story and making our asks of our state Legislatures.

That evening and during the day we were able to meet other MLD families as there were 14 of us representing MLD this year. It was pretty amazing and let me say our MLD families are awesome, I might be a little biased! We learned a lot on Tuesday and we were ready for the Hill on Wednesday.

Wednesday, March 1 we got up bright and early for breakfast before they sent us off to the Hill. We met up with our MN team right after breakfast and headed to our first meeting. We all had our 90 second elevator speech ready for our meetings with our specific “asks”. Brett Robertson, a MLD dad, was in our group from MN, but even though we had similar stories our “asks” were very different, which made our meetings even more impactful. Everyone in our group had their opportunity to present their story and articulate their “ask” to the congressional staffer and/or the Representative or Senator. We were most interested in obtaining funding for the NIH and FDA, so that we can continue to search for cures for this awful disease. At every meeting that we had, we left a letter that told Thomas’ Story in more detail along with our specific asks, which of course had pictures of our sweet boy.

As we moved from meeting to meeting we were lucky to get our own tour of the House side of the Capital with former Congressmen Brian Baird from the state of Washington. Brian is a Board Member of the Pulmonary Fibrosis Advocates as his father passed away from this disease and Paul Fogelberg, who is from MN, the founder of Pulmonary Fibrosis Advocates was also in our group. Paul and Brian have been on the Hill many, many times advocating for rare diseases, which made our meetings even better as they both were able to add pertinent color to emphasize to the Staffer or the Congressmen important issues worthy of their consideration as it relates to the rare disease community. Our team was a well-oiled machine by the time we went to our last meeting.

Before we headed back to our hotel room, we attended the Rare Artist Reception where we were able to view spectacular art created by artists with Rare Diseases. We were amazed at the talent that we have in the rare disease community. Each piece had a unique story, which made it even more amazing.

Overall Rare Disease Week on the Hill was incredible and truly life changing. It was a very emotional couple of days, but knowing that we were advocating for not only our MLD families, but also the Rare Disease Community as a whole gave us a sense of accomplishment and us asking ourselves what more we can do for the rare disease community. Thomas is no longer with us, so we now have to continue his legacy and to be his voice for all of the other kiddos and families in the United States that are fighting rare diseases. We need to continue to fight for cures! I would encourage all of the MLD families to start planning now to make it to Rare Disease Week on the Hill in 2018. It was an amazing experience!

At the 2016 MLD Family Conference a conversation with Dean led to a decision to attend the Rare Disease week.
It was a first visit for wife Nancy and I to Rare Disease week and a pleasure for us to assist daughter Michelle in attending this year.

Last year she had planned to attend but her daughter Emily had been admitted to Boston Children’s Hospital so Kim Brown had to pave the way and the great job she did encouraged us . Having visited DC all the way back to 1968 and many times since, I can conclude that big government is definitely in vogue.
Our first challenge was finding the right hotel and transportation and as always Dean came to the rescue. We stayed in Arlington Hilton Garden Inn based on one caveat, they gave us a reservation that could be cancelled at the last minute, no charge. Michelle was a suspect attendee based on her stroke and cancer recovery status but she was able to recover sufficient to make the trip. We used the metro to transfer from the hotel to meetings and soon were comfortable with travel inside the beltway. My recommendation would be to use Uber (what a great innovation in free and fair trade) to avoid any walking and searching for buildings in the rain.

We attended the RDLA Legislative Conference on Tuesday, which was a series of presentations related to rare disease issues apart from one political speech in support of the ACA which is an oxymoron. Most of the presentation related to current issues of interest to the advocacy community. The room was packed with attendees and the presentations were helpful in preparing us for the next day.

We met and heard some people from NC who had significant experience in advocacy and the group that we participated in helped navigate us through the halls of the senate and congress during our representative visits on Wednesday. We were prepared that we would not get to visit face to face with our representatives and that senior staffers were equally important.

I did see a number of senators in the basement as they departed the subway to the capitol building including Elizabeth Warren who smiled at Michelle as she was being pushed by me but had an MA Rare Disease badge on. My disappointment at not seeing any senator or congressman in our office visits was more than countered by the magnificent scene on Tuesday’s TV appearance of Megan Crowley* in POTUS’ message to a joint session of Congress and the first time ever Presidential recognition of Rare Disease Day!

In summary, it was a great experience and one we will repeat again next year, Lord willing. For many years I have lamented my lack of involvement in the MLD lobby. Dean and Teryn have carried the baton alone too long. This year was a manifold increase from Kim Brown’s sole visit last year. I hope that next year we will have an MLD hotel block rate to encourage participation.

Maybe Trump will attend 😊

Farewell, Adios, Ciao, Au Revoir, Sayonara and Zàijiàn,

Tony Hodgson for Michelle Hodgson Pierce and Nancy Hodgson

* Megan Crowley, her father John and the rest of her family were featured in the 2010 film, Extraordinary Measures.

It’s Our Opinion …

I presented this poster at the NIH’s Rare Disease Day event earlier this week (2/27/17). In short, to maximize impact and credibility, we are asking all organizations – government, advocacy, industry/pharma, academia, etc. to be consistent with their public sharing of Rare Disease facts.

I realize that sometimes we must be very scientific about things, but for basic Rare Disease awareness, where there are no absolute numbers, we need to be consistent in order to be most credible and impactful.

For those of you who know me, I have been a teaching computer skills to middle school kids for 17 years!. While I love school now as a teacher, I did not enjoy all aspects of school as a student. My favorite classes were Science and Gym! Social Studies, not so much! Shhhhh….. I really had no interest in our government. Politics…….yuck!!!!!

So you can imagine my terror when Michelle Pierce, one of my best friends and another MLD Mom, sent me an email inviting me to join her on a trip to DC for Rare Disease Week. Buzzwords like: “Legislative Conference” & “Day on the Hill” were making me wish I would have paid more attention in Social Studies class! However, knowing that we would have a blast together as we always do and knowing we could help our MLD Family was an honor I was not going to pass up.

On the Sunday before I departed for DC, I got a very unfortunate phone call from Michelle saying that Emily had a fever and was not feeling well. Monday poor Emily was feeling worse and was admitted in the hospital. You all know as MLD parents, sometimes our little ones have a different agenda. (Please say a prayer for Michelle, Emily and their family as of today they are still in the hospital. http://www.caringbridge.org/visit/emilypierce )

Now it turned out that I was headed to DC sans-Michelle. . I arrived late Monday night, met with Dean for a bite to eat and to discuss the agenda for the next two days.

Tuesday was our “learning” day. We attended the Legislative Conference from 8:30am – 5:30pm. The day started out with an AMAZING breakfast followed by the Welcome which was conducted by our very own Dean Suhr! (Dean, you did a great job by the way 🙂 …. we need to get you a bell for the next MLD Family Conference 😉 )

The rest of the morning there were discussions on the upcoming election, appropriation process, and information on the FDA, PDUFA, and NIH (a lot of acronyms).

Before we broke for lunch we discussed the OPEN Act Accelerating Cures and Treatments, the Rare Disease Caucus, Patient Focused Impact Assessment Act, and the Rare Disease Fund Act of 2015. These were the very things we were going to “Ask” for in our meetings on Capitol Hill the following day.

After lunch we discussed strategies on how to attend meetings. Topics discussed were: How to build relationships with members of Congress, sharing our advocate stories, congressional scorecards, hill asks and leave behinds.

They put on a very entertaining and informative skit on what to not do and what to do at our Congressional meetings followed by breakout sessions.

The final step of the conference was to break out into our groups that would be visiting senators and congressman from our state. It was amazing getting to know the group of advocates from NJ.

Some advocates were parents like me, some were grandparents, there was a mother and daughter and some amazing people who had rare diseases themselves.

The next day was the “march on the hill”. We had an agenda to meet with Senators and Congressmen from NJ. Mostly we met with their office staff. Never underestimate the staff personnel. They are the right hand men and women of your senators and congressman. They hear advocate’s stories and direct connections to the things we are trying to pass on the hill and report back to them with a “this is a worthy cause, let’s endorse” or “this may not be the direction we want to take”.

After meetings all day, I have to say each and every congressional representative we met from NJ was open and receptive to the things we were fighting for.

We even had an unexpected meeting with a member of Congress during lunch. He joined the rare disease caucus right on the spot and endorsed the Open Act. Pretty amazing stuff. (As an inside joke, all credit goes out to a cookie…. ask me about it the next time you see me!).

Overall, it was an honor to increases awareness of MLD as a rare disease and to represent all of you as a MLD mom on Capitol Hill. I strongly recommend all of you to participate if you can next year!

~Kim

p.s. [from Dean] … Thanks, Kim. I was thrilled to have you there, too! I look forward to a bell – and a cookie at our upcoming MLD Family Conference (July 15-16)!

February 29th is Rare Disease Day this year. 1 in 10 – 30 million Americans – have one of the 7,000 rare diseases.

On this rare day take a look around – who is it in your circle that has a rare disease?

MLD Foundation is very busy this Rare Disease Day not only on behalf of metachromatic leukodystrophy, but also on behalf of all with rare diseases because at helps the rare disease community will help MLD along our journey.

One of 40 exhibitors and poster presenter at this very important Advocacy Day. The poster is about the RUSP roundtable, and initiative focused on improving newborn screening.

RUSP Roundtable is a MLD Foundation organized, hosted and sponsored event that is a unique gathering of key opinion influencers in the newborn space representing clinicians, state & public health, advocates, genetics, genomic sequencing, industry, ethics, privacy, and more to improve newborn and childhood screening and health.

We are pleased to be the inspiration for newborn screening legislation just introduced in California by EveryLife Foundation that will require California to quickly implement new screens as they are approved by the federal ACHDNC. Right now each new disease requires legislative authorization. This “Once and Done” legislation will be model legislation for all the other states.

Dean is the host and moderator for a day-long legislative training conference for nearly 300 advocates from e very state who have gathered in Washington DC. This is his 3rd year in this role and he continues to make sure every advocate walks away better informed and more confident as they impact policy for all of us.

Newborn Screening breakout session presenter. Dean is responsible for sharing a full overview of the process, status, issues, and opportunities in Newborn Screening.

The House has had a Rare Disease Caucus for quite a number of years. New this year is a Senate Rare Disease Caucus. The Senate has very few caucuses so this in itself is rather unique.

Dean will be attending the Rare Disease Caucus meeting to share the Rare Disease voice.

The month of February is Rare Disease Month – our time to increase awareness of the possibility of Rare Diseases as a diagnosis. Please do your part – share these posts and plan a special event for Rare Disease Day.

When we hear “clippity clop” our brains immediately think horses.

Zebra is the American medical slang for arriving at an exotic medical diagnosis when a more commonplace explanation is more likely.[1] It is shorthand for the aphorism coined in the late 1940s by Dr. Theodore Woodward, professor at the University of Maryland School of Medicine, who instructed his medical interns: “When you hear hoofbeats, think of horses not zebras“.[2] Since horses are common in Maryland while zebras are relatively rare, logically one could confidently guess that an animal making hoofbeats is probably a horse. By 1960, the aphorism was widely known in medical circles.[3]
The National Organization for Rare Disorders (NORD) estimates that it takes an average of 9 years for a rare disease patient to get an accurate diagnosis.[4] Our experience with MLD is not that long, but it can easily be 6-12 or even 18 months for the late infantiles and 2-3 years or more for the juvenile MLD patients to be diagnosed. Too many are thinking horses, not zebras!

As an Advocacy Group leader, we often receive phone calls from families wanting to know how to cure MLD because the family thinks their symptoms match according to what they found online using “Dr. Google” and “Dr. Facebook”. After lengthy conversation we often shed additional insight and guide the family another direction – often in the midst of what is a moment of more frustration and uncertainty, but hopefully also with a bit of hope they are getting closer to finding their own zebra.
Some very creative types from the Technical University of Denmark, including Radu Dragusin, have launched a search engine dedicated to helping physicians diagnose rare diseases called FindZebra.com. But doctors will not use the tool if they keep thinking horses.

And also, please reme
mber that it’s not just doctors that raise yellow flags about rare disease. Parents, teachers, friends, and other children often have insight that something is wrong.

The month of February is Rare Disease Month – our time to increase awareness of the possibility of Rare Diseases as a diagnosis. Please do your part – share these posts and plan a special event for Rare Disease Day.

Like this:

If everyone with a Rare Disease lived in the same country we’d be the 3rd most populous country in the World!

Rare disease affects all population groups in all countries and all sexes. Some rare diseases are more prevalent in a few cultures where there has been less outside family mixing.

It might help you to visualize the third most populous country is the United States* – we’re also the 3rd largest geographically*. Or think of ½ of the people in Europe all in one country. That’s a lot of people … but since 1 in 10 people have a Rare Disease it makes perfect sense.

While most rare diseases show symptoms early in life, many are later onset diseases because our genetics are always with us.

Genetic inheritance patterns can vary from single gene autosomal recessive (like MLD) where 50% of offspring are carriers, 25% are affected, and 25% are free of the bad genes entirely … to autosomal dominant where 50% of offspring have the disease … to several forms of X-linked where which parent is affected and the sex of the child determine the inheritance pattern … or inheritance can be a more complicated multifactorial pattern that includes genes and environment … and there are mitochondrial inheritance patterns as well. Learn more about forms of inheritance here.

Autosomal Recessive

It is important to note that carriers, while most often not sick, can pass along carrier or affected status if their spouse/partner is also a carrier. Very rare diseases like MLD have a frequency of 1 in 40,000 births, but note this equates to 1 in 100 of the general population being a carrier. That’s one carrier in every 3 or 4 school classrooms, 2 or three carriers in every movie theater, and about 685 carriers at this Sunday’s Super Bowl (68,500 seats)!

While each of the 7,000 diseases may be rare, when you add them all up they affect 30 million Americans … 30 million Europeans … 350 million around the globe … 1 of every 10 people have a Rare Disease.

Most of the muscular dystrophies are rare … cystic fibrosis is rare … many cancers are rare .. and metachromatic leukodystrophy is very rare, affecting 1 in 40,000 births with 1 in 100 of the general public being a carrier.

February is Rare Disease month, culminating on February 29th – a Rare Day indeed – which is Rare Disease Day.
Stay tuned for month of Rare Disease facts, tidbits and things to know.